Linked Data
ClinVar Variation Id:
438778
dbSNP Id:
rs1555950011
COSMIC:
COSM5702593
PubMed:
PMID:26822237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71296645dup , CM000685.2:g.71296645dup | GRCh38 |
| NC_000023.10:g.70516495dup , CM000685.1:g.70516495dup | GRCh37 |
| NC_000023.9:g.70433220dup | NCBI36 |
| NG_046742.1:g.18454dup | |
| NG_054891.1:g.371dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276079.13:c.731dup MANE Select | ENSP00000276079.8:p.Asn244LysfsTer21 | |
| ENST00000373856.8:c.731dup | ENSP00000362963.4:p.Asn244LysfsTer21 | |
| ENST00000420903.6:c.731dup | ENSP00000410299.2:p.Asn244LysfsTer21 | |
| ENST00000450092.6:c.731dup | ENSP00000415777.2:p.Asn244LysfsTer21 | |
| ENST00000454976.2:c.731dup | ENSP00000406673.2:p.Asn244LysfsTer21 | |
| ENST00000471419.7:n.1843dup | ||
| ENST00000473525.2:n.909dup | ||
| ENST00000676495.1:n.909dup | ||
| ENST00000676499.1:n.909dup | ||
| ENST00000676797.1:c.464dup | ENSP00000503920.1:p.Asn155LysfsTer21 | |
| ENST00000677014.1:c.*558dup | ENSP00000503813.1:n.*558dup | |
| ENST00000677218.1:n.998dup | ||
| ENST00000677245.1:c.*36dup | ENSP00000503929.1:n.*36dup | |
| ENST00000677274.1:c.731dup | ENSP00000504314.1:p.Asn244LysfsTer21 | |
| ENST00000677446.1:c.731dup | ENSP00000503031.1:p.Asn244LysfsTer21 | |
| ENST00000677612.1:c.731dup | ENSP00000504351.1:p.Asn244LysfsTer21 | |
| ENST00000677766.1:n.909dup | ||
| ENST00000677826.1:n.909dup | ||
| ENST00000677879.1:c.551dup | ENSP00000504090.1:p.Asn184LysfsTer21 | |
| ENST00000677977.1:n.1843dup | ||
| ENST00000678231.1:c.731dup | ENSP00000503233.1:p.Asn244LysfsTer21 | |
| ENST00000678323.1:n.909dup | ||
| ENST00000678335.1:c.731dup | ENSP00000503769.1:p.Asn244LysfsTer21 | |
| ENST00000678437.1:c.731dup | ENSP00000504007.1:p.Asn244LysfsTer21 | |
| ENST00000678660.1:c.746dup | ENSP00000504665.1:p.Asn249LysfsTer21 | |
| ENST00000678830.1:c.731dup | ENSP00000504263.1:p.Asn244LysfsTer21 | |
| ENST00000679029.1:c.731dup | ENSP00000504193.1:p.Asn244LysfsTer21 | |
| ENST00000679267.1:n.909dup | ||
| ENST00000276079.12:c.731dup | ENSP00000276079.8:p.Asn244LysfsTer21 | |
| ENST00000373841.5:c.731dup | ENSP00000362947.1:p.Asn244LysfsTer21 | |
| ENST00000373856.7:c.731dup | ENSP00000362963.3:p.Asn244LysfsTer21 | |
| ENST00000413858.5:c.471-206dup | ENSP00000413350.1:n.471-206dup | |
| ENST00000418921.1:c.316dup | ||
| ENST00000471419.6:n.439dup | ||
| ENST00000472185.1:n.61-3874dup | ||
| ENST00000474431.5:n.71-1198dup | ||
| ENST00000490044.5:n.1438dup | ||
| ENST00000535149.5:c.464dup | ENSP00000441364.1:p.Asn155LysfsTer21 | |
| NM_001145408.1:c.731dup | NP_001138880.1:p.Asn244LysfsTer21 | |
| NM_001145409.1:c.731dup | NP_001138881.1:p.Asn244LysfsTer21 | |
| NM_001145410.1:c.464dup | NP_001138882.1:p.Asn155LysfsTer21 | |
| NM_007363.4:c.731dup | NP_031389.3:p.Asn244LysfsTer21 | |
| NM_007363.5:c.731dup MANE Select | NP_031389.3:p.Asn244LysfsTer21 | |
| NM_001145408.2:c.731dup | NP_001138880.1:p.Asn244LysfsTer21 | |
| NM_001145409.2:c.731dup | NP_001138881.1:p.Asn244LysfsTer21 | |
| NM_001145410.2:c.464dup | NP_001138882.1:p.Asn155LysfsTer21 |